Novel dysferlin mutations and characteristic muscle atrophy in late-onset miyoshi myopathy

Naoki Suzuki, Masashi Aoki, Toshiaki Takahashi, Daiki Takano, Masahiro Asano, Yusei Shiga, Yoshiaki Onodera, Maki Tateyama, Yasuto Itoyama

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

Abstract

Miyoshi myopathy is characterized by weakness of the calf muscles during early adulthood. We report a case of late-onset Miyoshi myopathy presenting at 48 years of age, with novel mutations in the dysferlin gene. Muscle computed tomography clearly revealed severe atrophy in the soleus and medial gastrocnemius muscles. Even older patients with atrophy in the posterior compartment of the distal lower extremities and a relatively high serum creatine kinase level should be examined for the dysferlin gene.

Original languageEnglish
Pages (from-to)721-723
Number of pages3
JournalMuscle and Nerve
Volume29
Issue number5
DOIs
Publication statusPublished - 2004 May 1

Keywords

  • Computed tomography (CT)
  • Dysferlin
  • Miyoshi myopathy
  • Muscle
  • Mutation

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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